Results 41 to 50 of about 3,322,892 (202)

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation

Basic and Clinical Andrology
Background Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role.
Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao   +5 more
doaj   +1 more source

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

Medicina, 2020
We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant.
Magdalena Mrożek, Ewa Wypasek, Martine Alhenc-Gelas, Daniel P. Potaczek, Anetta Undas   +4 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

De novo SCN2A splice site mutation in a boy with autism spectrum disorder [PDF]

, 2014
BACKGROUND: SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important role in psychiatric disorders ...
Jocelyn Curchack-Lichtin, Joseph D Buxbaum, Buxbaum, J. D., Guiqing Cai, Cai, G., Curchack-Lichtin, J., Soffes, S., Schwartz, L., Halpern, D., David Grodberg, Bush, L., Sarah Soffes, Danielle Halpern, Wang, A. T., Lily Schwartz, Alexander Kolevzon, Grodberg, D., Teresa Tavassoli, A Ting Wang, Kolevzon, A., Tavassoli, Teresa, Lauren Bush   +21 more
core   +2 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Precision base-editing of the cryptic 3’ acceptor site to correct the RNA splicing defect of β654-thalassemia

Molecular Biomedicine
β-Thalassemia is one of the most common inherited disorders worldwide and is caused by mutations affecting β-globin production. β654 mutation (IVS2-654, C > T) is one of the most frequently occurring β-thalassemia alleles in Han Chinese population, which
Dan Lu, Xiuli Gong, Xinbing Guo, Qin Cai, Wenxiu Li, Yanwen Chen, Dali Li, Fanyi Zeng   +7 more
doaj   +1 more source

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Novel splice site mutation in keratin 1 underlies mild epidermolytic keratoderma in three kindreds [PDF]

, 2001
We report a novel mutation in the exon 6 splice donor site of keratin 1 (G4134A) that segregates with a palmoplantar keratoderma in three kindreds. The nucleotide substitution leads to the utilization of a novel in-frame splice site 54 bases downstream ...
Kelsell, D P, Kelsell, DP, Wennerstrand, Lena, Wennerstrand, L, Eady, R A, Hatsell, Sarah J., Eady, Robin A., Hatsell, SJ, Leigh, IM, Munro, C, Kelsell, David P., Leigh, I M, Leigh, Irene M., Dopping-Hepenstal, P, Eady, RA, Dopping-Hepenstal, Patricia, Munro, Colin, Hatsell, S J   +17 more
core   +1 more source

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BMC Medical Genetics, 2010
Background Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males ...
Wieacker Peter, Tasic Velibor, Gucev Zoran, Steiner Bernhard, Makarov Roman, Wieland Ilse   +5 more
doaj   +1 more source